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A Rare Cause of Recurrent Hematochezia

2016; Elsevier BV; Volume: 150; Issue: 3 Linguagem: Inglês

10.1053/j.gastro.2015.12.010

1528-0012

Xuyang Yang, Mingtian Wei, Ziqiang Wang,

Eosinophilic Disorders and Syndromes

Question: A 15-year-old female presented with recurrent pallor, fatigue, and hematochezia. The patient had no history of nonsteroidal antiinflammatory drug use, or peptic ulcer, and no family history of gastrointestinal (GI) bleeding. Notably, she denied any discomfort with massive characteristic venous malformations of the skin since infancy. These lesions, which increased in size and number over time, were deep blue, soft, rubbery, and easily compressible. Physical examination showed bluish nodules of various sizes occurred on the lower limbs, back, and buttocks (Figure A, white arrows). Laboratory examinations exhibited a hemoglobin level of 40 g/L, a reduced red blood cell count characterized by small cells, and low pigment. Bone marrow aspiration revealed depleted iron stores and normocellular marrow. No clinically important signs were observed on computed tomography scan. Endoscopy revealed multiple bluish mucosal polypoid lesions ranging between 8 and 20 mm in stomach, jejunum, ileum, and colon (Figure B). Based on these findings, what is the most likely diagnosis? What is the next step in management for this patient? Look on page 569 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. An exploratory laparotomy was performed after failed conservative treatment. Our laparotomy findings concurred well with cutaneous and endoscopic manifestation. Numerous venous malformations were located throughout the small bowel (Figure C, white arrows). Pathologic examination revealed the dilated, cavernous, blood-filled spaces lined with flat endothelial cells, consistent with cavernous hemangioma (Figure D). On the basis of the above findings, the diagnosis of blue rubber bleb nevus syndrome (BRBNS) was made. BRBNS is a rare condition that is characterized by multiple recurrent hemangiomas in the skin, GI tract, and other viscera.1Bean W.B. Blue rubber-bleb nevi of the skin and gastrointestinal tract.in: Bean W.B. Vascular Spiders and Related Lesions of the Skin. Charles C Thomas, Springfield, IL1958: 178-185Google Scholar These multiple venous malformations usually appear in early childhood and increase in number and size with age. Most cases are sporadic, although an autosomal dominant pattern of inheritance caused by a mutation on chromosome 9p has been reported.2Kisu T. Yamaoka K. Lichida Y. et al.A case of blue rubber bleb nevus syndrome with familial onset.Gastroenterol Jpn. 1986; 21: 262-266Crossref PubMed Scopus (28) Google Scholar Bleeding from vascular malformations in the GI tract often causes anemia that is the most common clinical manifestation of BRBNS. The treatment of GI venous malformations depends on the extent of involvement of the bowel and the severity of the bleeding at presentation. When the bleeding from GI vascular lesions is mild, a conservative approach such as endoscopic management is recommended. When traditional methods fail and the lesions are confined to a segment of the GI tract, resection of the involved segmental is indicated.3Sandhu K.S. Cohen H. Radin R. et al.Blue rubber bleb nevus syndrome presenting with recurrences.Dis Sci. 1987; 32: 214-219Crossref PubMed Scopus (48) Google Scholar In contrast with previous reports, for small intestine hemangiomas, we did only perform wedge resection (>1 cm in diameter) or directly ligation with silk suture (<1 cm in diameter; Figure E, white arrows and triangle). We did not perform a segmental resection, because the involved segment was extensive and the outcome was poor for extensive resection. Additionally, recurrence of the lesions may occur in the remaining part of the GI tract after excision.3Sandhu K.S. Cohen H. Radin R. et al.Blue rubber bleb nevus syndrome presenting with recurrences.Dis Sci. 1987; 32: 214-219Crossref PubMed Scopus (48) Google Scholar Small bowel intussusceptions caused by these venous malformations were also observed (Figure F, white arrows), and manual reduction was successfully performed. The other lesions in stomach and colon were treated with endoscopic band ligation during operation. The postoperative course was uneventful and the patient was discharged from hospital on the postoperative day 6. After 6 months, she attended the outpatient clinic of our hospital and denied any discomfort. A repeat endoscopy revealed completely normal mucosa in the original lesions (Figure G). According to our experience, this approach is an effective therapeutic modality for extensive intestinal lesions in BRBNS. Xuyang Yang and Mingtian Wei are the co-first authors. Address correspondence to: Ziqiang Wang, MD, PhD, Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, No. 37 Guo Xue Alley, Chengdu 610041, Sichuan Province, China. email: [email protected]